Medicine Genetic

Medical genetics tests have the aim to identify the presence of DNA alterations that can be associated with pathological conditions.

Constitutional Microarray Analysis

Constitutional Microarray Analysis

The Array-CGH analysis  identify unbalanced genomics anomalies (CNVs) that can be associated with  genetic diseases, such as mental retardation, autism, epilepsy and polymalformative syndromes. Conventional cytogenetic analysis is limited in its diagnostic capabilities by its resolution.  Generally, this technique is not able to detect chromosomal alterations smaller than about 10 Mb. DNA alterations smaller than those […]

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Gene panels sequencing by NGS Next Generation Sequencing

Gene panels sequencing by NGS Next Generation Sequencing

The massive parallel sequencing or Next Generation Sequencing (NGS) is an innovative and highly versatile technology that allows the parallel sequencing of millions DNA fragments: it allows to perform multiple genes analysis, with a higher diagnostic performance than the traditional sequencing. It drastically reduce genetic analysis times. Microgenomics laboratory developed specific gene panels to investigate […]

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Clinical Exome

Clinical Exome

Diagnostic test that analyzes more than 4500 genes associated with disease. It is recommended for the identification of  molecular causes on individuals with conditions not attributable to known pathologies. TECHNOLOGY USED: NGS – Next Generation Sequencing The massive parallel sequencing or Next Generation Sequencing (NGS) is an innovative and highly versatile technology that allows the parallel sequencing of […]

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(Italiano) Test Fibrosi Cistica

(Italiano) Test Fibrosi Cistica

Sorry, this entry is only available in Italian.

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(Italiano) Test Distrofia Muscolare

(Italiano) Test Distrofia Muscolare

Sorry, this entry is only available in Italian.

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